Canonical Allele Identifier: CA379786664

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417205C>G (hg19) ; chr11:g.17395658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395658C>G , CM000673.2:g.17395658C>G	GRCh38
NC_000011.9:g.17417205C>G , CM000673.1:g.17417205C>G	GRCh37
NC_000011.8:g.17373781C>G	NCBI36
NG_008867.1:g.86245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3860G>C
ENST00000528374.2:c.850G>C
ENST00000529967.6:n.2598G>C
ENST00000532220.2:n.3492G>C
ENST00000642611.2:n.5592G>C
ENST00000644057.2:n.835G>C
ENST00000645004.2:n.1758G>C
ENST00000682051.1:n.4421G>C
ENST00000682110.1:n.4474G>C
ENST00000682140.1:c.*45G>C	ENSP00000507829.1:n.*45G>C
ENST00000682185.1:n.5564G>C
ENST00000682204.1:c.*2397G>C	ENSP00000507094.1:n.*2397G>C
ENST00000682215.1:n.4841G>C
ENST00000682288.1:c.*2690G>C	ENSP00000507506.1:n.*2690G>C
ENST00000682442.1:n.4694G>C
ENST00000682528.1:n.4551G>C
ENST00000682673.1:n.4418G>C
ENST00000682805.1:n.4879G>C
ENST00000682965.1:c.*681G>C	ENSP00000508229.1:n.*681G>C
ENST00000683093.1:n.5558G>C
ENST00000683136.1:c.4142G>C	ENSP00000507768.1:p.Arg1381Pro
ENST00000683153.1:n.4516G>C
ENST00000683365.1:n.4576G>C
ENST00000683377.1:n.4474G>C
ENST00000683456.1:c.*1396G>C	ENSP00000508318.1:n.*1396G>C
ENST00000683522.1:n.4474G>C
ENST00000683562.1:c.*2428G>C	ENSP00000508265.1:n.*2428G>C
ENST00000683693.1:n.6039G>C
ENST00000683725.1:c.4259G>C	ENSP00000507496.1:p.Arg1420Pro
ENST00000684010.1:n.4469G>C
ENST00000684157.1:n.5459G>C
ENST00000684253.1:n.4377G>C
ENST00000684288.1:c.*2431G>C	ENSP00000507143.1:n.*2431G>C
ENST00000684313.1:n.3906G>C
ENST00000684332.1:n.4547G>C
ENST00000684371.1:n.4580G>C
ENST00000684404.1:n.5502G>C
ENST00000684442.1:n.4698G>C
ENST00000684555.1:c.*2471G>C	ENSP00000507705.1:n.*2471G>C
ENST00000684571.1:c.4100G>C	ENSP00000506935.1:p.Arg1367Pro
ENST00000684593.1:c.*3964G>C	ENSP00000507005.1:n.*3964G>C
ENST00000684711.1:c.*2655G>C	ENSP00000506841.1:n.*2655G>C
ENST00000302539.9:c.4262G>C	ENSP00000303960.4:p.Arg1421Pro
ENST00000389817.8:c.4259G>C MANE Select	ENSP00000374467.4:p.Arg1420Pro
ENST00000642271.1:c.4256G>C	ENSP00000493749.1:p.Arg1419Pro
ENST00000642579.1:c.2313G>C
ENST00000642611.1:n.5477G>C
ENST00000642902.1:c.4041G>C
ENST00000643260.1:c.4259G>C	ENSP00000494450.1:p.Arg1420Pro
ENST00000643562.1:c.*2381G>C	ENSP00000496124.1:n.*2381G>C
ENST00000643925.1:c.2899G>C
ENST00000644057.1:n.336G>C
ENST00000644484.1:c.*3645G>C	ENSP00000493558.1:n.*3645G>C
ENST00000644675.1:c.*2431G>C	ENSP00000494567.1:n.*2431G>C
ENST00000644757.1:c.*3202+606G>C	ENSP00000495085.1:n.*3202+606G>C
ENST00000644772.1:c.4325G>C	ENSP00000494321.1:p.Arg1442Pro
ENST00000645004.1:n.1952G>C
ENST00000645076.1:c.3458G>C
ENST00000645417.1:c.1447G>C
ENST00000645744.1:c.*3964-20G>C	ENSP00000494564.1:n.*3964-20G>C
ENST00000645760.1:c.4680G>C
ENST00000645884.1:c.*1542G>C	ENSP00000495516.1:n.*1542G>C
ENST00000646003.1:c.*2301-20G>C	ENSP00000495259.1:n.*2301-20G>C
ENST00000646207.1:c.*3096G>C	ENSP00000495025.1:n.*3096G>C
ENST00000646276.1:c.*3663G>C	ENSP00000496070.1:n.*3663G>C
ENST00000646592.1:c.3565G>C
ENST00000646902.1:c.4226G>C	ENSP00000494101.1:p.Arg1409Pro
ENST00000646993.1:c.*2801G>C	ENSP00000493720.1:n.*2801G>C
ENST00000647013.1:c.4265G>C	ENSP00000496741.1:n.4265G>C
ENST00000647015.1:c.4010G>C	ENSP00000495389.1:p.Arg1337Pro
ENST00000647086.1:c.*3845G>C	ENSP00000493677.1:n.*3845G>C
ENST00000647158.1:c.*2546G>C	ENSP00000495744.1:n.*2546G>C
ENST00000302539.8:c.4262G>C	ENSP00000303960.4:p.Arg1421Pro
ENST00000389817.7:c.4259G>C	ENSP00000374467.3:p.Arg1420Pro
ENST00000525022.1:n.258G>C
ENST00000526037.5:n.123G>C
ENST00000526168.5:c.67-20G>C
ENST00000531642.5:c.95G>C
NM_000352.4:c.4259G>C	NP_000343.2:p.Arg1420Pro
NM_001287174.1:c.4262G>C	NP_001274103.1:p.Arg1421Pro
XM_011520331.1:c.4259G>C	XP_011518633.1:p.Arg1420Pro
XM_011520332.1:c.4262G>C	XP_011518634.1:p.Arg1421Pro
XM_011520333.1:c.2759G>C	XP_011518635.1:p.Arg920Pro
XR_930890.1:n.4325G>C
NM_001351295.1:c.4325G>C	NP_001338224.1:p.Arg1442Pro
NM_001351296.1:c.4259G>C	NP_001338225.1:p.Arg1420Pro
NM_001351297.1:c.4256G>C	NP_001338226.1:p.Arg1419Pro
NR_147094.1:n.4554G>C
XM_017018197.2:c.4328G>C	XP_016873686.1:p.Arg1443Pro
XM_017018199.1:c.4325G>C	XP_016873688.1:p.Arg1442Pro
XM_017018201.2:c.4328G>C	XP_016873690.1:p.Arg1443Pro
XM_017018202.1:c.2825G>C	XP_016873691.1:p.Arg942Pro
XM_017018204.1:c.2216G>C	XP_016873693.1:p.Arg739Pro
XM_024448668.1:c.2627G>C	XP_024304436.1:p.Arg876Pro
XR_001747945.2:n.4400G>C
XR_001747946.2:n.4331G>C
XR_002957189.1:n.6114G>C
NM_000352.6:c.4259G>C MANE Select	NP_000343.2:p.Arg1420Pro
NM_001287174.2:c.4262G>C	NP_001274103.1:p.Arg1421Pro
NM_001351295.2:c.4325G>C	NP_001338224.1:p.Arg1442Pro
NM_001351296.2:c.4259G>C	NP_001338225.1:p.Arg1420Pro
NM_001351297.2:c.4256G>C	NP_001338226.1:p.Arg1419Pro
NR_147094.2:n.4554G>C
NM_001287174.3:c.4262G>C	NP_001274103.1:p.Arg1421Pro